X-linked lethal multiple pterygium syndrome (XLMP) is a rare genetic disorder that affects males. It is caused by a mutation in the gene that codes for the protein laminin-alpha-2. Symptoms of XLMP include multiple pterygia (webbed skin folds), joint contractures, and respiratory problems. Affected individuals may also have skeletal abnormalities, facial dysmorphism, and intellectual disability. The disorder is usually fatal in infancy or early childhood.

The symptoms of X-linked lethal multiple pterygium syndrome (XLMP) vary from person to person, but may include:

-Severe joint contractures (stiffness) of the arms, legs, and spine
-Muscle weakness
-Abnormal facial features, including a small jaw, low-set ears, and a flattened nose
-Cleft palate
-Heart defects
-Respiratory problems
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Kidney problems
-Hearing loss
-Vision problems

X-linked lethal multiple pterygium syndrome is caused by mutations in the gene called ZNF9. This gene is responsible for producing a protein that helps regulate the development of the body's connective tissue. Mutations in this gene can lead to the development of multiple pterygium syndrome, which is characterized by multiple webbed skin folds, joint contractures, and respiratory problems.

Unfortunately, there is no cure for X-linked lethal multiple pterygium syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and respiratory support. In some cases, medications may be prescribed to help manage symptoms such as seizures or muscle spasms. Genetic counseling may also be recommended for families affected by the condition.

1. Being male: X-linked lethal multiple pterygium syndrome is an X-linked recessive disorder, meaning it is passed from mother to son.

2. Family history: If a family member has the disorder, there is an increased risk of passing it on to future generations.

3. Maternal age: Women over the age of 35 are more likely to have a child with X-linked lethal multiple pterygium syndrome.

Unfortunately, there is no cure or medications available for X-linked lethal multiple pterygium syndrome. Treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, occupational therapy, and orthopedic surgery.